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Congenital short bowel syndrome, X-linked

MedGen UID:
812909
Concept ID:
C3806579
Disease or Syndrome
Synonym: CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
 
OMIM®: 300017; 300048

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Therapy

Hirakawa H, Ueno S, Matuda H, Hinoki T, Kato Y
Tokai J Exp Clin Med 2009 Apr 20;34(1):28-33. PMID: 21318994

Prognosis

Nagara S, Fukaya S, Muramatsu Y, Kaname T, Tanaka T
Pediatr Int 2020 Aug;62(8):985-986. Epub 2020 Jul 20 doi: 10.1111/ped.14211. PMID: 32686882
Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T
Eur J Hum Genet 2016 Mar;24(3):408-14. Epub 2015 Jun 10 doi: 10.1038/ejhg.2015.119. PMID: 26059841Free PMC Article
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
Am J Hum Genet 2007 Apr;80(4):751-8. Epub 2007 Feb 26 doi: 10.1086/513321. PMID: 17357080Free PMC Article
FitzPatrick DR, Strain L, Thomas AE, Barr DG, Todd A, Smith NM, Scobie WG
J Med Genet 1997 Aug;34(8):666-9. doi: 10.1136/jmg.34.8.666. PMID: 9279759Free PMC Article

Clinical prediction guides

Zada A, Zhao Y, Halim D, Windster J, van der Linde HC, Glodener J, Overkleeft S, de Graaf BM, Verdijk RM, Brooks AS, Shepherd I, Gao Y, Burns AJ, Hofstra RMW, Alves MM
Hum Mol Genet 2023 Jan 1;32(1):151-160. doi: 10.1093/hmg/ddac199. PMID: 35981053Free PMC Article
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP
Hum Mutat 2018 Jan;39(1):103-113. Epub 2017 Nov 2 doi: 10.1002/humu.23355. PMID: 29024177
Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ
Am J Surg Pathol 2010 Oct;34(10):1528-43. doi: 10.1097/PAS.0b013e3181f0ae47. PMID: 20871226
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
Am J Hum Genet 2007 Apr;80(4):751-8. Epub 2007 Feb 26 doi: 10.1086/513321. PMID: 17357080Free PMC Article

Recent systematic reviews

Negri E, Coletta R, Morabito A
J Pediatr Surg 2020 Sep;55(9):1809-1814. Epub 2020 Mar 23 doi: 10.1016/j.jpedsurg.2020.03.009. PMID: 32278545

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